We supplemented these high-throughput data sources through manual curation of literature sources. These provide valuable information from low-throughput but high-quality assays to aid in assigning function to SNVs. As an initial release, RegulomeDB contains manual curation from 97 papers focused on six loci, resulting in 188 genomic annotations. We have also included 1448 validated enhancer regions from the VISTA Enhancer Browser (Visel et al. 2007) and 855 SNVs shown to directly affect NFKB and RNA Pol 2 binding in lymphoblastoid cells (Kasowski et al. 2010; Karczewski et al. 2011).
